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    ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 157570, updated on 17-Jun-2019

    Summary

    Official Symbol
    ESCO2provided by HGNC
    Official Full Name
    establishment of sister chromatid cohesion N-acetyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:27230
    See related
    Ensembl:ENSG00000171320 MIM:609353
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBS; EFO2; EFO2p; hEFO2; 2410004I17Rik
    Summary
    This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 3.1), duodenum (RPKM 2.9) and 13 other tissues See more
    Orthologs

    Genomic context

    See ESCO2 in Genome Data Viewer
    Location:
    8p21.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (27771949..27812430)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27632057..27670141)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class A member 3 Neighboring gene microRNA 3622b Neighboring gene microRNA 3622a Neighboring gene uncharacterized LOC107986934 Neighboring gene coiled-coil domain containing 25 Neighboring gene RNA, U6 small nuclear 1276, pseudogene Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene PDZ binding kinase Neighboring gene SCARA5 intron CAGE-defined high expression enhancer Neighboring gene scavenger receptor class A member 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Establishment of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
      Establishment of Sister Chromatid Cohesion, organism-specific biosystemThe cohesin complex loads onto chromatin in telophase, but its association with chromatin remains transient, dynamic until the S-phase of the cell cycle, presumably because the cohesin-bound NIPBL:MA...
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    double-strand break repair IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    post-translational protein acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    XY body IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromocenter IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear pericentric heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    site of double-strand break IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    N-acetyltransferase ESCO2
    Names
    ECO1 homolog 2
    establishment factor-like protein 2
    NP_001017420.1
    XP_011542723.1
    XP_011542724.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008117.1 RefSeqGene

      Range
      5001..35368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017420.3NP_001017420.1  N-acetyltransferase ESCO2

      See identical proteins and their annotated locations for NP_001017420.1

      Status: REVIEWED

      Source sequence(s)
      AC104997, AF306679, AY882862
      Consensus CDS
      CCDS34872.1
      UniProtKB/Swiss-Prot
      Q56NI9
      Related
      ENSP00000306999.8, ENST00000305188.12
      Conserved Domains (2) summary
      pfam13878
      Location:374413
      zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
      pfam13880
      Location:529591
      Acetyltransf_13; ESCO1/2 acetyl-transferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      27771949..27812430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544421.2XP_011542723.1  N-acetyltransferase ESCO2 isoform X1

      See identical proteins and their annotated locations for XP_011542723.1

      UniProtKB/Swiss-Prot
      Q56NI9
      Conserved Domains (2) summary
      pfam13878
      Location:374413
      zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
      pfam13880
      Location:529591
      Acetyltransf_13; ESCO1/2 acetyl-transferase
    2. XM_011544422.2XP_011542724.1  N-acetyltransferase ESCO2 isoform X2

      Conserved Domains (2) summary
      pfam13878
      Location:374413
      zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
      pfam13880
      Location:529591
      Acetyltransf_13; ESCO1/2 acetyl-transferase

    RNA

    1. XR_949378.3 RNA Sequence

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